My rare disease story is about my beautiful son Julian. Something that started as innocently as growing pains at the age of 5 turned out to be a life changing diagnosis. The pain in his knees and ankles turned into broken bones from simple falls, excruciating stomach pain, painful rashes, sore eyes, high fevers that couldn’t be broken, reoccurring episodes of scarlet fever, days without being able to keep down any food or even water! Julian’s legs would lock in place and he would have to be carried to use the bathroom, he couldn’t change his own clothes, he was so sick and no one seemed to understand what was happening. We went through many diagnosis- first it was juvenile arthritis, then familial medderterain fever, bechets disease, this continued on for 2 and a half years. Different medications were trialled, he would seem to be better and then another episode would hit and he would be back at square one. He couldn’t be around anyone who was even the slightest bit sick because he would get whatever they had and it would trigger an episode, usually ending with hospitalisation. But finally, after a traumatic episode that resulted in Julian being rushed into the resus room in emergency, seizing from a dangerously high fever and tachycardia, we found out that he has Tumor Necrosis Factor Receptor Associated Periodic Syndrome (also known as TRAPS).
Of course when the doctors came in and told me they had his genetic testing results I was not expecting a diagnosis that consisted of 7 words! 7 words that I had never heard of before, but soon came to be embedded in my brain after hours of sleepless nights up researching the disease.
TRAPS is a complex rare disease and tricky to explain, but here’s the gist: TRAPS is characterized by recurrent episodes that last from 3 weeks to a few months. The frequency depends on the severity of your condition, but is generally every 6 weeks. Episodes happen spontaneously but are also triggered by injury, infection, stress, exercise or hormonal changes. Along with the symptoms I’d already learnt from witnessing Julian from the outside, I learnt that with TRAPS a lot was happening inside that no one could see. During episodes individuals suffer from periorbital edema, inflammation in the eyes, heart muscle, joints, throat, mucous membranes and digestive tract, so basically, anywhere that has lining in your body TRAPS can cause that to be inflamed. Patients with TRAPS are also at a high risk of developing amyoidosis, an abnormal build up of the amyoid protein in the kidneys that can lead to kidney or other organ failure. This amyoid protein can build up and turn to a rock like substance that is deposited most commonly in the kidneys, heart, skin and intestines.
There is currently no cure for TRAPS and there are only few approved drugs that help with symptoms. During episodes Julian is treated with high doses of steroids, and he is currently in the middle of a government approved drug trial of enbrel (injections administered by myself at home). While this offered some relief at first, Julian’s symptoms are coming back and we are in the process of reassessing his dosage or considering changing to a different drug trial.
We have been told that over time the drugs will help less and less, but we remain hopeful for a cure. With increased awareness we believe this can be possible! So please, this rare disease day, spread the word on rare diseases and help Julian’s and many others, voices be heard!